核型异常产前诊断中CMA与核型检测的应用分析

Application analysis of CMA and karyotype testing in prenat al diagnosis of karyolype abnorma lities

目的探讨核型异常产前诊断中CMA分析的临床意义。方法收集本中心2017年1月至2021年6月羊膜腔穿刺产前诊断中行核型及染色体微阵列(CMA)联合分析890例羊水标本,对其中染色体核型异常的83例样本进行分析。结果890例染色体核型和CMA检测均成功,检出异常核型83例,检出率为9.3%(83/890),染色体数目异常52例;结构异常20例,包括平衡结构异常13例,非平衡结构异常7例;嵌合11例。结论染色体核型分析对染色体平衡性结构异常、倒位、嵌合及复杂核型检测更有优势,而CMA技术则对非平衡性结构异常,定位染色体来源、区带、片段大小,变异类型等检测更有优势。在经济条件允许的情况下,产前诊断标本建议行CMA和染色体联合检测,给临床医师遗传咨询提供更多信息指引。

Ohjective To inves tigate the clinical significance of CMA analysis in the prenatal diagnosis of karyotype abnormalities.Methods Collect 890 amniotic fluid samples from January 2017 to June 2021 in the prenatal diagnosis of amniocentesis conducted by our center for joint analysis of karyotype and chromosome microarray(CMA),and select 83 samples with abnormal karyotype.Resulls 890 cases of chromosome karyotype and CMA detection were successful,83 cases of abnomal karyotype were detected,the detection rate was 9.3%(83/890),52 cases of abnormal chromosome number 20 cases of st ructural abnormalities,including 13 cases of balanced structural abnormalities and 7 cases of unbalanced structural abnormalities;11 cases of chimerism Conclusion Karyotype analysis has more advantages for dettection of chromosome balanced structural abnormalities,inv ersion,chimerism and complex kar yotypes,while CMA technology has more advantages for detec tion of unbalanced structural abonormalities,location of chromosome origin,banding,segment size,variation type,etc.If economic conditions permit,it is recommended that Prenatal diagnostic samples should be jointly tested with CMA and chromosomes to provide more information and guidance for gene tic counseling of clinicians.